A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2278519



Internal ID17731962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44566255..44568129hg38UCSC Ensembl
Innerchr3:44607747..44609621hg19UCSC Ensembl
Innerchr3:44582751..44584625hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381875
hg191875
hg181875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979825
Supporting Variants
SamplesHGDP00456
Known GenesZKSCAN7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2278519
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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